Canonical Allele Identifier: CA2343355992

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308809_55308816delinsTGGGTGGC , CM000681.2:g.55308809_55308816delinsTGGGTGGC	GRCh38
NC_000019.9:g.55820177_55820184delinsTGGGTGGC , CM000681.1:g.55820177_55820184delinsTGGGTGGC	GRCh37
NC_000019.8:g.60511989_60511996delinsTGGGTGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+81_2179+88delinsTGGGTGGC MANE Select	ENSP00000310649.1:n.2179+81_2179+88delinsTGGGTGGC
ENST00000309383.5:c.2179+81_2179+88delinsTGGGTGGC	ENSP00000310649.1:n.2179+81_2179+88delinsTGGGTGGC
ENST00000326848.7:c.1264+81_1264+88delinsTGGGTGGC	ENSP00000320853.7:n.1264+81_1264+88delinsTGGGTGGC
ENST00000590333.5:c.2227+81_2227+88delinsTGGGTGGC	ENSP00000468190.1:n.2227+81_2227+88delinsTGGGTGGC
NM_032430.1:c.2179+81_2179+88delinsTGGGTGGC	NP_115806.1:n.2179+81_2179+88delinsTGGGTGGC
XM_005259327.2:c.1909+81_1909+88delinsTGGGTGGC	XP_005259384.1:n.1909+81_1909+88delinsTGGGTGGC
XM_011527395.1:c.1936+81_1936+88delinsTGGGTGGC	XP_011525697.1:n.1936+81_1936+88delinsTGGGTGGC
XR_430213.2:n.2162+81_2162+88delinsTGGGTGGC
XM_005259327.3:c.1909+81_1909+88delinsTGGGTGGC	XP_005259384.1:n.1909+81_1909+88delinsTGGGTGGC
XM_011527395.2:c.1651+81_1651+88delinsTGGGTGGC	XP_011525697.2:n.1651+81_1651+88delinsTGGGTGGC
XM_024451739.1:c.1954+81_1954+88delinsTGGGTGGC	XP_024307507.1:n.1954+81_1954+88delinsTGGGTGGC
XR_430213.4:n.2460+81_2460+88delinsTGGGTGGC
NM_032430.2:c.2179+81_2179+88delinsTGGGTGGC MANE Select	NP_115806.1:n.2179+81_2179+88delinsTGGGTGGC